| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Postural instability
Decreased body weight Dystonia/Parkinsonism Upper limb dystonia Tremor, action Developmental regression Parkinsonism Hypotonia Rigidity Myoclonus Bradykinesia Developmental delay Intellectual developmental disorder Lower limb dystonia Short stature Cognitive impairment Dystonia, segmental/multifocal Tremor (any or unspecified) Dystonia (any or unspecified) Delayed motor development Dystonia, limb Show more (+18) |
Myoclonus
Developmental delay |